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Myeloperoxidase deficiency

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Description

A rare primary immunodeficiency due to a defect in innate immunity characterized by a marked decrease or absence of myeloperoxidase activity in neutrophils and monocytes. Clinically, most patients are asymptomatic. Occasionally, severe infectious complications may occur, particularly recurrent candida infections, being especially severe in the setting of comorbid diabetes mellitus.

ORDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

10

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Genes

External Links

  • OMIM

    254600

  • Orphanet

    2587

  • HPO
  • Medgen

    C0398595

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